Peutz Jeghers syndrome

Common Name(s)

Peutz Jeghers syndrome, Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. T hese polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers. Most cases of PJS can be attributed to mutations in the STK11 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peutz Jeghers syndrome" for support, advocacy or research.

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Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

Last Updated: 29 Jun 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peutz Jeghers syndrome" for support, advocacy or research.

Logo
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group

We are an e-mail forum providing support and information for individuals, families and friends affected by PJS (Peutz-Jeghers syndrome) & JPS (Juvenile Polyposis syndrome). Medical professionals and researchers may join too.

http://peutz-jeghersnews.blogspot.com/

Last Updated: 29 Jun 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Peutz Jeghers syndrome" returned 147 free, full-text research articles on human participants. First 3 results:

A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.
 

Author(s): Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shu-Han Sun, Shou-Bin Ning

Journal: Medicine (Baltimore). 2017 Dec;96(49):e8591.

 

Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an ...

Last Updated: 31 Dec 1969

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Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.
 

Author(s): Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun

Journal:

 

Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.

Last Updated: 31 Dec 1969

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Synchronous Cervical Minimal Deviation Adenocarcinoma, Gastric Type Adenocarcinoma and Lobular Endocervical Glandular Hyperplasia Along with STIL in Peutz-Jeghers Syndrome: Eliciting Oncogenesis Pathways.
 

Author(s): Azfar Neyaz, Nuzhat Husain, Manish Deodhar, Rohini Khurana, Saumya Shukla, Aditi Arora

Journal: Turk Patoloji Derg. 2017 ;1(1):1-7.

 

We describe an unusual case of a Peutz-Jeghers syndrome associated with a composite synchronous cervical neoplasia comprising precursor "lobular endocervical glandular hyperplasia (LEGH)", "minimal deviation adenocarcinoma (MDA)" and "gastric-type adenocarcinoma (GTA)" along with ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Peutz Jeghers syndrome" returned 14 free, full-text review articles on human participants. First 3 results:

Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature.
 

Author(s): Shou-Xing Duan, Guang-Huan Wang, Jun Zhong, Wen-Hui Ou, Ma-Xian Fu, Fu-Sheng Wang, Shu-Hua Ma, Jian-Hong Li

Journal: Medicine (Baltimore). 2017 Apr;96(17):e6538.

 

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently ...

Last Updated: 31 Dec 1969

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Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome.
 

Author(s): Vijay Krishnan, Ashish Chawla, Eric Wee, Wilfred C G Peh

Journal: Singapore Med J. 2015 Feb;56(2):81-5; quiz 86.

 

A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed ...

Last Updated: 31 Dec 1969

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Update on imaging of Peutz-Jeghers syndrome.
 

Author(s): Catherine Tomas, Philippe Soyer, Anthony Dohan, Xavier Dray, Mourad Boudiaf, Christine Hoeffel

Journal: World J. Gastroenterol.. 2014 Aug;20(31):10864-75.

 

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Cancer of the Pancreas Screening-5 CAPS5)Study
 

Status: Recruiting

Condition Summary: Pancreas Cancer; Peutz-Jeghers Syndrome (PJS); Gene Mutation; Germline Mutation Carrier; Lynch Syndrome

 

Last Updated: 5 Dec 2017

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Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
 

Status: Recruiting

Condition Summary: Cushing's Syndrome; Hereditary Neoplastic Syndrome; Lentigo; Neoplasm; Testicular Neoplasm

 

Last Updated: 17 May 2018

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Pancreatic Cancer Early Detection Program
 

Status: Recruiting

Condition Summary: Pancreatic Cancer; Pancreas Cancer; Pancreatic Adenocarcinoma; Familial Pancreatic Cancer; BRCA 1/2; HNPCC; Lynch Syndrome; Hereditary Pancreatitis; FAMMM; Familial Atypical Multiple Mole Melanoma; Peutz Jeghers Syndrome

 

Last Updated: 12 May 2017

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